Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We d...

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Detalles Bibliográficos
Autores principales: Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734130/
https://www.ncbi.nlm.nih.gov/pubmed/23940540
http://dx.doi.org/10.1371/journal.pone.0070151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734130/
https://www.ncbi.nlm.nih.gov/pubmed/23940540
http://dx.doi.org/10.1371/journal.pone.0070151

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